MCID: HMC001
MIFTS: 26

Homocarnosinosis

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Homocarnosinosis

MalaCards integrated aliases for Homocarnosinosis:

Name: Homocarnosinosis 57 12 20 29 54 44 15 70
Homocarnosinase Deficiency 57 20 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
homocarnosinosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060177
OMIM® 57 236130
MeSH 44 C535328
MedGen 41 C0268632
UMLS 70 C0268632 C3495554

Summaries for Homocarnosinosis

Disease Ontology : 12 A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has material basis in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.

MalaCards based summary : Homocarnosinosis, also known as homocarnosinase deficiency, is related to paraplegia and carnosinemia. An important gene associated with Homocarnosinosis is CNDP1 (Carnosine Dipeptidase 1), and among its related pathways/superpathways are beta-Alanine metabolism (KEGG) and Beta-alanine metabolism (TR). Affiliated tissues include brain, and related phenotypes are intellectual disability and abnormality of retinal pigmentation

More information from OMIM: 236130

Related Diseases for Homocarnosinosis

Diseases related to Homocarnosinosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paraplegia 10.2
2 carnosinemia 10.1
3 retinitis pigmentosa 10.1
4 neuroretinitis 10.1
5 retinitis 10.1
6 spastic paraplegia 11, autosomal recessive 9.9
7 spastic paraplegia 11 9.9
8 spasticity 9.9
9 gamma-amino butyric acid metabolism disorder 9.6 CNDP1 ABAT

Graphical network of the top 20 diseases related to Homocarnosinosis:



Diseases related to Homocarnosinosis

Symptoms & Phenotypes for Homocarnosinosis

Human phenotypes related to Homocarnosinosis:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 abnormality of retinal pigmentation 31 HP:0007703
3 spastic paraplegia 31 HP:0001258
4 abnormality of skin pigmentation 31 HP:0001000
5 carnosinuria 31 HP:0003167

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
spastic paraplegia
mental retardation

Lab:
elevated homocarnosine
brain homocarnosinase deficiency
serum carnosinase deficiency

Eyes:
retinal pigmentation

Clinical features from OMIM®:

236130 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Homocarnosinosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.1 ABAT SPG11 ZNF407
2 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 9.1 ABAT SPG11 ZNF407

Drugs & Therapeutics for Homocarnosinosis

Search Clinical Trials , NIH Clinical Center for Homocarnosinosis

Cochrane evidence based reviews: homocarnosinosis

Genetic Tests for Homocarnosinosis

Genetic tests related to Homocarnosinosis:

# Genetic test Affiliating Genes
1 Homocarnosinosis 29

Anatomical Context for Homocarnosinosis

MalaCards organs/tissues related to Homocarnosinosis:

40
Brain

Publications for Homocarnosinosis

Articles related to Homocarnosinosis:

(show all 17)
# Title Authors PMID Year
1
Homocarnosinosis: influence of dietary restriction of histidine. 57 61
3736769 1986
2
Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine. 57 61
6616870 1983
3
Homocarnosinosis: hypercarnosinuria. 61 57
7108529 1982
4
Homocarnosinosis: increased content of homocarnosine and deficiency of homocarnosinase in brain. 57 61
448356 1979
5
Homocarnosinosis. 3. Spinal fluid amino acids in familial spastic paraplegia. 61 57
842287 1977
6
Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation. 57 61
1266573 1976
7
Letter: Homocarnosinosis: a new metabolic disorder associated with spasticity and mental retardation. 61 57
4138320 1974
8
Inborn errors of GABA metabolism. 57
3790108 1986
9
Clinical aspects of the disorders of GABA metabolism in children. 61 54
15021235 2004
10
Homocarnosinosis: A historical update and findings in the SPG11 gene. 61
29732542 2018
11
Inherited disorders of GABA metabolism. 61
23842532 2006
12
A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry. 61
16309980 2006
13
[Serum carnosinase deficiency and homocarnosinosis]. 61
9590040 1998
14
Inherited disorders of GABA metabolism. 61
8412016 1993
15
Homocarnosinosis patients and great apes have a serum protein that cross-reacts with human serum carnosinase. 61
1521330 1992
16
Carnosinase and homocarnosinosis. 61
3891936 1985
17
Homocarnosinosis. Symposium in honor of James F. Lenney. 61
3891935 1985

Variations for Homocarnosinosis

Expression for Homocarnosinosis

Search GEO for disease gene expression data for Homocarnosinosis.

Pathways for Homocarnosinosis

Pathways related to Homocarnosinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.47 CNDP1 ABAT
2
Show member pathways
9.88 CNDP1 ABAT

GO Terms for Homocarnosinosis

Sources for Homocarnosinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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